Fabry Cardiomyopathy: Current Treatment and Future Options

• Main Authors: Irfan Vardarli, Manuel Weber, Christoph Rischpler, Dagmar Führer, Ken Herrmann, Frank Weidemann
• Format: Article
• Language: English
• Published: MDPI AG 2021-07-01
• Series: Journal of Clinical Medicine
• Subjects: Fabry; cardiomyopathy; treatment; options
• Online Access: https://www.mdpi.com/2077-0383/10/14/3026

Fabry disease is a multisystem X-linked lysosomal storage disorder caused by a mutation in the alpha-galactosidase A gene. Deficiency or reduced activity of alpha-galactosidase A (GLA) is leading to progressive intracellular accumulation of globotriaosylceramide (GL3) in various organs, including the heart, kidney and nerve system. Cardiac involvement is frequent and is evident as concentric left ventricular hypertrophy. Currently, the standard treatment is enzyme replacement therapy or chaperone therapy. However, early starting of therapy, before myocardial fibrosis has developed, is essential for long-term improvement of myocardial function. For future treatment options, various therapeutic approaches including gene therapy are under development. This review describes the current and potential future therapy options for Fabry cardiomyopathy.